Results 51 to 60 of about 11,497 (209)

Mitchell-Riley Syndrome Report of Novel Mutation and Review of the Literature

Journal of Biochemical and Clinical Genetics, 2018
Background: Mitchell-Riley Syndrome (OMIM # 615710) is a rare autosomal recessive disorder, characterized by a genetic mutation in the RFX6 gene. Clinically it is presented with triad of neonatal diabetes, gall bladder agenesis/hypoplasia and intestinal
Nourah Alruqaie, Majid Alfadhel
doaj   +1 more source

Breastmilk and medium‐chain triglyceride supplementation: Retrospective study on outcomes in biliary atresia infants after Kasai

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Does breastmilk with medium‐chain triglycerides (MCT) after Kasai support growth and improve surgical outcomes? Abstract Objective To relate post‐surgical feeding regimens to growth and surgical outcomes in children with biliary atresia (BA) after hepato‐portoenterostomy (Kasai).
Thora Wesenberg Helt, Ruben H. de Kleine, Lars Søndergaard Johansen, Tietie Dijkstra, Jan B. F. Hulscher, Henkjan J. Verkade, Vibeke Brix Christensen   +6 more
wiley   +1 more source

Colonic atresia in a newborn. Case Report

Case Reports, 2018
Introduction: Colonic atresia is the least common type of intestinal atresia; however, it must be suspected in patients with partial or complete intestinal obstruction, failure to pass meconium, vomit and abdominal distension.
Diego Armando Montenegro Pinzon, Silvia Amparo Aragon Lopez, Juan Javier Valero Halaby   +2 more
doaj   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

A Simplified Risk Assessment Tool to Predict Post Deceased Donor Liver Transplantation Outcomes: A Single, Highly Experienced Medical Center in Taiwan

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Liver transplantation (LT) is the standard treatment for end‐stage liver disease, yet the gap between the demand for organs and their availability is widening. In Taiwan, the scarcity of deceased donor organs highlights the need for optimized utilization strategies.
Jie‐Lan Jhang, Hao‐Chien Hung, Yin Lai, Jin‐Chiao Lee, Yu‐Chao Wang, Chih‐Hsien Cheng, Tsung‐Han Wu, Chen‐Fang Lee, Ting‐Jung Wu, Hong‐Shiue Chou, Kun‐Ming Chan, Wei‐Chen Lee   +11 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Management of jejunoileal atresias: an experience at eastern Nepal

BMC Surgery, 2010
Background Intestinal atresia is a common cause of neonatal intestinal obstruction, and management of this disease in limited setup of a developing country is very difficult.
Poudel Prakash, Shrestha Pramod, Agrawal Chandra S, Shakya Vikal C, Khaniya Sudeep, Adhikary Shailesh   +5 more
doaj   +1 more source

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

Medicine Bulletin, EarlyView.
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source

Type 3B jejunoileal atresia management at a tertiary hospital in northern Tanzania: A report of three cases

Clinical Case Reports
Key Clinical Message Jejunalileal atresia is a cause of intestinal obstruction in the newborn, hence a surgical emergency. Prenatal diagnosis can be made by simple obstetric ultrasound and postnatal by plain abdominal x‐ray to plan a multidisciplinary ...
Evance Salvatory Rwomurushaka, David Msuya, Robert Mbwambo, Jay Lodhia   +3 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source